EARS2 leukoencephalopathy

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

EARS2 leukoencephalopathy. This is caused by mutations in the EARS2 gene. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the EARS2 gene
  • The gene encodes mitochondrial glutamyl-tRNA synthetase (mtGluRS)
  • The transmission is autosomal recessive
  • The onset is in infancy

Clinical features

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Magnetic resonance imaging (MRI) features

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Magnetic resonance imaging (MRI) brain: lesion locations

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Synonym

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References

  1. Biancheri R, Lamantea E, Severino M, et al. Expanding the clinical and magnetic resonance spectrum of leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) in a patient harboring a novel EARS2 mutation. JIMD Rep 2015; 23:85-89.
  2. Oliveira R, Sommerville EW, Thompson K, et al. Lethal neonatal LTBL associated with biallelic EARS2 variants: case report and review of the reported neuroradiological features. JIMD Rep 2017; 33:61-68.
  3. Taskin BD, Karalok ZS, Gurkas E, et al. Early-onset mild type leukoencephalopathy caused by a homozygous EARS2 mutation. J Child Neurol 2016; 31:938-941. 
  4. Kevelam SH, Klouwer FC, Fock JM, Salomons GS, Bugiani M, van der Knaap MS. Absent thalami caused by a homozygous EARS2 mutation: expanding disease spectrum of LTBL. Neuropediatrics 2016; 47:64-67.
  5. Steenweg ME, Ghezzi D, Haack T, et al. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain 2012; 135:1387-1394.

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